Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family
about
Galactose toxicity in animalsA Drosophila melanogaster model of classic galactosemiaN- and O-linked glycosylation of total plasma glycoproteins in galactosemia.Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimeraseMisfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.Heterodimer formation and activity in the human enzyme galactose-1-phosphate uridylyltransferaseFunctional and structural impact of the most prevalent missense mutations in classic galactosemia.Mutations in galactosemia.Reply to Reichardt.
P2860
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P2860
Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family
description
1995 nî lūn-bûn
@nan
1995 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի մարտին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Identification and functional ...... alactosemia in a single family
@ast
Identification and functional ...... alactosemia in a single family
@en
Identification and functional ...... alactosemia in a single family
@nl
type
label
Identification and functional ...... alactosemia in a single family
@ast
Identification and functional ...... alactosemia in a single family
@en
Identification and functional ...... alactosemia in a single family
@nl
prefLabel
Identification and functional ...... alactosemia in a single family
@ast
Identification and functional ...... alactosemia in a single family
@en
Identification and functional ...... alactosemia in a single family
@nl
P2093
P2860
P1476
Identification and functional ...... alactosemia in a single family
@en
P2093
J C Lennon
J L Fridovich-Keil
P P Dembure
S D Langley
P2860
P407
P577
1995-03-01T00:00:00Z